Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664997 | SCV000789047 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2016-12-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001091860 | SCV001248114 | uncertain significance | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000664997 | SCV001395668 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 276 of the ACADS protein (p.Ala276Thr). This variant is present in population databases (rs199717731, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of SCAD deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 550290). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACADS protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects ACADS function (PMID: 18523805). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome- |
RCV000664997 | SCV002033270 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2021-11-07 | criteria provided, single submitter | clinical testing |